Saturday, May 24, 2014

Article Concluding the Majority of Breast Surgeons Provide Adequate Genetic Counseling Demonstrates the Opposite

An original article published online in the Annals of Surgical Oncology (Ann Surg Oncol DOI 10.1245/s10434-014-3711-9) is noteworthy for many reasons.

• This article is entitled, ‘Can Breast Surgeons Provide Breast Cancer Genetic Testing?’, and yet the methods used cannot adequately answer this question. The authors surveyed breast surgeons requesting a ‘self-assessment of skills and experience’. This methodology is flawed, to say the least, and it is difficult to believe that such an article would be published in a peer-reviewed journal in 2014.

• Fewer than 35% of those surveyed responded, with a possible selection bias toward those surgeons most interested and educated in genetic testing. And yet only half (51.6%) report that they both feel confident in their ability to provide appropriate pre- and post-BRCA test counseling and do so as a standard practice.

• Only 63% of respondents standardly obtain a 3-generation pedigree for their patient’s family history of cancer, a requirement by NCCN Guidelines as part of the breast and/or ovarian cancer risk assessment.1 This omission of a critical element of genetic counseling makes it impossible for the clinician to perform a risk assessment, order the correct genetic test, and could result in patients being denied coverage for testing.1 Such errors have been shown to result in patients having inappropriate prophylactic surgeries, inappropriate surveillance and even increased mortality, nationally.2,3,4

• This study includes no measures of knowledge, training, or education of the respondents. There is a vast body of literature showing that physicians do not have the time, education or knowledge to provide these services.5-22

• The authors conclude from their findings that “the majority of breast surgeons report appropriate practices related to assessing genetic risk, obtaining testing, interpreting the results, and providing counseling and related clinical services.” However, this study actually does not provide any data regarding how often breast surgeons interpret test results accurately, make appropriate screening and risk reduction recommendations based on test results, or provide “related clinical services”.

• Disturbingly, the authors declare no conflict of interest. Yet, at least one of the authors has worked as a speaker for Myriad Genetics Laboratory in 2014. Such conflicts of interest in choosing laboratories and influencing policy has been a subject of recent debate.23

1. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2014. Accessed May 23, 2014.

2. Brierley KL, Campfield D, Ducaine W, et al. Errors in delivery of cancer genetics services: implications for practice. Connecticut Medicine. 2010;74:413-423.

3. Brierley KL,Blouch E, Cogswell W, et al. Adverse events in cancer genetic testing: medical, ethical, legal, and financial implications. The Cancer Journal. 2012;18(4):303-309.

4. Bensend TA, Veach PM, Niendorf KB. What's the Harm? Genetic Counselor Perceptions of Adverse Effects of Genetics Service Provision by Non-Genetics Professionals. Journal of Genetic Counseling. Feb 2014;23(1):48-63.

5. Emery J, Watson E, Rose P, Andermann A. A systematic review of the literature exploring the role of primary care in genetic services. Fam Pract 1999; 16:426-445.

6. Greendale K and Pyeritz RE. Empowering primary care health professionals in medical genetics: How soon? How fast? How far? Am J Med Genet 2001;106:223-232.

7. Wilkins-Haug L, Hill L, et al. Gynecologists’ training, knowledge, and experiences in genetics: A survey. Obstet Gynecol 2000;95:421-424.

8. Wilkins-Haug L, Erickson K, et al. Obstetrician-Gynecologists’ opinions and attitudes on the role of Suchard MA, Yudkin P, Sinsheimer JS. Are general practitioners willing and able to provide genetic services for common diseases? J Genet Couns 1999;8:301-311.

9. Suchard MA, Yudkin P, Sinsheimer JS. Are general practitioners willing and able to provide genetic services for common diseases? J Genet Couns 1999;8:301-311.

10. Watson EK et al. The ‘new genetics’ and primary care: GP’s views on their role and their educational needs. Fam Pract 1999;16:420-425.

11. Fry A, Campbell H, Gudmundsdottir H, Rush R, Porteous M, Gorman D, Cull A. GP’s views on their role in cancer genetic counseling services and current practice. Fam Pract 1999; 16:486-474.

12. Suther S and Goodson P. Barriers to the provision of genetic services by primary care physicians: A systematic review of the literature. Genetics in Medicine 2003; 5(2):70-76.

13. Wilkins-Haug L, Erickson K, et al. Obstetrician-Gynecologists’ opinions and attitudes on the role of genetics in women’s health. J Womens Health Gend Based Med 2000;9:873-979.

14. Wideroff L et al. Physician use of genetic testing for cancer susceptibility: Results of a national survey. Cancer Epidemiology, Biomarkers, and Prevention 2003; 12:295-303.

15. Burke W et al. Genetic assessment of breast cancer risk in primary care practice. American Journal of Medical Genetics Part A 2009; 149A: 349-356.

16. Brandt R et al. Cancer genetics evaluation: Barriers to and improvements for referral. Genetic Testing 2008; 12(1): 9-12.

17. Wood ME, Stockdale A, and Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Family Practice 2008; 25:334-340.

18. Chorley W and MacDermot K. Who should talk to patients with cancer about genetics? BMJ 1997; 314(7078):441.

19. Demmer LA et al. Knowledge of ethical standards in genetic testing amoung medical students, residents, and practicing physicians. JAMA 2000; 284:2595-2596.

20. Giardiello FM et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. The New England Journal of Medicine 1997; 336(12):823-827.

21. Plon SE, Cooper HP, Parks B, et al. Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med. Feb 2011;13(2):148-154.

22. Bellcross C, Kolor K, Goddard K, et al. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. American Journal of Preventive Medicine. Jan 2011;40(1):61-66.

23. Matloff ET, Barnett RE, Nussbaum R. Choosing a BRCA genetic testing laboratory: a patient-centric and ethical call to action for clinicians and payers. American Journal of Managed Care. 2014;20 (Special Issue 7): SP229.